Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKCB_chr16_23830983_24225611	23875580	A A	ATATGTAT others(18): Show ATATGTATGTATATCACACACATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0086 a0001c0003t0003g0086	1	148	0.0068	25	c.205 others(44): Show c.205+38181_205+38182insGTATATCACACACATATGTATGTAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	23875751	C C	CATATATA others(18): Show CATATATATGTATGTATATCACACAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03834.hp1 HG00639.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0045 a0001c0002t0001 a0001c0001t0045 a0001c0002t0001	a0001c0001t0045g0071 a0001c0002t0001g0003 a0001c0001t0045g0071 a0001c0002t0001g0003	2	148	0.0135	25	c.205 others(44): Show c.205+38351_205+38352insATGTATGTATATCACACATATATAT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24128051	G G	GAAAACAA others(18): Show GAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00738.hp2 HG01070.hp2 others(18): Show HG00609.hp2 HG00738.hp2 HG01070.hp2 HG01358.hp2 HG01496.hp2 HG02109.hp2 HG02145.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02717.hp1 HG02738.hp2 HG03017.hp2 HG03453.hp1 HG03471.hp2 HG03669.hp1 HG03834.hp1 NA18998.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 others(17): Show a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0018 a0001c0002t0031 a0001c0002t0043 a0001c0002t0050 a0001c0002t0052 a0001c0002t0055 a0001c0002t0068 a0001c0002t0083 a0001c0003t0001 a0001c0005t0004 a0001c0006t0002 a0001c0009t0067 a0001c0010t0006 a0001c0011t0002 a0001c0011t0063 a0001c0012t0024	a0001c0001t0007g0005 a0001c0002t0001g0003 a0001c0002t0002g0017 others(18): Show a0001c0001t0007g0005 a0001c0002t0001g0003 a0001c0002t0002g0017 a0001c0002t0002g0132 a0001c0002t0003g0061 a0001c0002t0018g0002 a0001c0002t0031g0121 a0001c0002t0043g0059 a0001c0002t0050g0008 a0001c0002t0052g0127 a0001c0002t0055g0114 a0001c0002t0068g0050 a0001c0002t0083g0068 a0001c0003t0001g0069 a0001c0005t0004g0036 a0001c0006t0002g0035 a0001c0009t0067g0012 a0001c0010t0006g0144 a0001c0011t0002g0136 a0001c0011t0063g0067 a0001c0012t0024g0022	21	148	0.1419	25	c.106 others(44): Show c.1065+4072_1065+4096dupAAACAAAACAAAACAAAACAAAACA	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCB_chr16_23830983_24225611	24182902	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0039 a0001c0004t0002g0039	1	148	0.0068	25	c.153 others(44): Show c.1533+1974_1533+1975insGTGTGTGTGTGTGTGTGTGTGTGTG	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	13/16			chr16	TogoVar
PRKCB_chr16_23830983_24225611	24219245	C C	CTTTTGTT others(18): Show CTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0101 a0001c0001t0049g0101	1	148	0.0068	25	c.44 others(36): Show c.4434_*4458dupGTTTTGTTTTGTTTTGTTTTGTTTT	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	17/17	4459	INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCD_chr3_53156209_53197717	53156624	A A	AGGCGGGG others(18): Show AGGCGGGGCGGGGCGGGGCGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 NA21309.hp2 HG04199.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0016 a0001c0002t0002 a0001c0003t0016	a0001c0002t0002g0227 a0001c0003t0016g0210 a0001c0002t0002g0227 a0001c0003t0016g0210	2	322	0.0062	25	c.-49 others(36): Show c.-4936_-4935insGGCGGGGCGGGGCGGGGCGGGGCGG	PRKCD	ENSG00000163932.16	transcript	ENST00000330452.8	protein_coding		4584		chr3	TogoVar
PRKCE_chr2_45646675_46192990	45751809	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01255.hp1 HG02735.hp1 HG00140.hp2 HG01255.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003	a0001c0001t0002g0043 a0001c0001t0005g0085 a0001c0002t0003g0009 a0001c0001t0002g0043 a0001c0001t0005g0085 a0001c0002t0003g0009	3	168	0.0179	25	c.349 others(44): Show c.349-91189_349-91165dupTTTTTTTTTTTTTTTTTTTTTTTTT	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45941065	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01106.hp1 others(6): Show HG00280.hp2 HG00609.hp2 HG01106.hp1 HG01169.hp2 HG01891.hp1 HG02300.hp2 HG03239.hp1 NA18959.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0011t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0116 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0116 a0001c0001t0002g0008 a0001c0001t0002g0104 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0002t0003g0041 a0001c0011t0001g0144	9	168	0.0536	25	c.413 others(44): Show c.413-35342_413-35341insAAAAAAAAAAAAAAAAAAAAAAAAA	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCE_chr2_45646675_46192990	45958817	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	168	0.0060	25	c.413 others(44): Show c.413-17612_413-17611insATATATATATATATATATATATATA	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	2/14			chr2	TogoVar
PRKCE_chr2_45646675_46192990	46097519	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp1 NA19007.hp1 HG02300.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0026 a0001c0001t0006 a0001c0001t0026	a0001c0001t0006g0012 a0001c0001t0026g0135 a0001c0001t0006g0012 a0001c0001t0026g0135	2	168	0.0119	25	c.159 others(46): Show c.1592+11175_1592+11176insAAAAAAAAAAAAAAAAAAAAAAAA A	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCI_chr3_170217424_170310977	170283011	A A	AGGAGAAT others(18): Show AGGAGAATCGCTTGAGCCCGGGAGGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02818.hp2 NA19043.hp1 HG01433.hp2 HG02818.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0022 a0001c0001t0034 a0001c0001t0019 a0001c0001t0022 a0001c0001t0034	a0001c0001t0019g0149 a0001c0001t0022g0010 a0001c0001t0034g0148 a0001c0001t0019g0149 a0001c0001t0022g0010 a0001c0001t0034g0148	3	342	0.0088	25	c.106 others(44): Show c.1067+1048_1067+1072dupAATCGCTTGAGCCCGGGAGGCGGAG	PRKCI	ENSG00000163558.13	transcript	ENST00000295797.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRKCZ_chr1_2045411_2190395	2103408	G G	GGTGCAGT others(18): Show GGTGCAGTGGCCGGTGCTGAGCAGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG06807.hp1 HG01884.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0277 a0001c0001t0002g0024 a0001c0001t0001g0277 a0001c0001t0002g0024	2	286	0.0070	25	c.335 others(44): Show c.335-31853_335-31852insTGCAGTGGCCGGTGCTGAGCAGCCG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122025	G G	GTGGTGGT others(18): Show GTGGTGGTTAGGGTCGTGGTGGTAGT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19074.hp2 NA19077.hp1 NA19065.hp1 NA19074.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0059 a0001c0003t0001g0071 a0001c0003t0001g0073	3	286	0.0105	25	c.335 others(44): Show c.335-13236_335-13235insGGTGGTTAGGGTCGTGGTGGTAGTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123431	G G	GTGGTTAG others(18): Show GTGGTTAGGGTCGTGGTGGTAGTTAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	286	0.0035	25	c.335 others(44): Show c.335-11830_335-11829insGGTTAGGGTCGTGGTGGTAGTTATT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18982.hp2 HG02027.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0175 a0001c0001t0002g0320 a0001c0001t0001g0175 a0001c0001t0002g0320	2	378	0.0053	25	c.207 others(42): Show c.2070+703_2070+704insATATATATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46680946	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18980.hp1 NA19080.hp1 HG03669.hp1 NA18980.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0319 a0001c0001t0002g0330 a0001c0001t0001g0033 a0001c0001t0002g0319 a0001c0001t0002g0330	3	378	0.0079	25	c.207 others(42): Show c.2070+703_2070+704insAAATATATATATATATATATATATA	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKD2_chr19_46669316_46722114	46717184	A A	AGGGGCCG others(18): Show AGGGGCCGGGGGCGGAAGGGGAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG02083.hp1 others(12): Show HG00733.hp1 HG01074.hp2 HG02083.hp1 HG02886.hp2 HG02897.hp2 HG03471.hp1 HG03516.hp2 HG04228.hp2 NA18906.hp1 NA18963.hp2 NA18985.hp1 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0057 others(12): Show a0001c0001t0001g0037 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0004g0010	15	378	0.0397	25	c.-81 others(34): Show c.-815_-814insACCCTCCCCTTCCGCCCCCGGCCCC	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding		71		chr19	TogoVar
PRKG1_chr10_51069487_52303350	51374093	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	64	0.0156	25	c.479 others(44): Show c.479-93629_479-93628insAAAAATATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51374093	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03688.hp2 HG03579.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0054 a0001c0001t0010g0042 a0001c0001t0001g0054 a0001c0001t0010g0042	2	64	0.0313	25	c.479 others(44): Show c.479-93629_479-93628insAAATATATATATATATATATATATA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51578980	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	64	0.0156	25	c.592 others(46): Show c.592+111148_592+111172dupTTTTTTTTTTTTTTTTTTTTTTTT T	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	52148957	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02622.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0006 a0001c0007t0004 a0001c0002t0006 a0001c0007t0004	a0001c0002t0006g0024 a0001c0007t0004g0056 a0001c0002t0006g0024 a0001c0007t0004g0056	2	64	0.0313	25	c.100 others(46): Show c.1002-12930_1002-12906dupTTTTTTTTTTTTTTTTTTTTTTTT T	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKN_chr6_161342417_162732766	161680775	A A	ATATATAT others(18): Show ATATATATATATATATATTTATTTTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0012 a0005c0011t0012	a0005c0011t0012g0009 a0005c0011t0012g0009	1	32	0.0313	25	c.871 others(46): Show c.871+104996_871+104997insCAAAATAAATATATATATATATAT A	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161902552	A A	ATCTATCT others(18): Show ATCTATCTATCTATCTATTTATCTAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	25	c.734 others(44): Show c.734+70749_734+70750insATAGATAAATAGATAGATAGATAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162166047	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0015 a0003c0005t0001g0015	1	32	0.0313	25	c.534 others(44): Show c.534+35083_534+35084insTTTTTTTTTTTTTTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	4/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162210107	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG02602.hp2 others(3): Show HG01192.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG03041.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0002c0002t0009	a0001c0001t0001g0017 a0001c0001t0005g0002 a0001c0001t0006g0003 others(3): Show a0001c0001t0001g0017 a0001c0001t0005g0002 a0001c0001t0006g0003 a0001c0001t0007g0020 a0001c0001t0008g0010 a0002c0002t0009g0008	6	32	0.1875	25	c.413 others(42): Show c.413-8880_413-8856dupATTTTATTTTATTTTATTTTATTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162359079	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	32	0.0313	25	c.171 others(44): Show c.171+84230_171+84231insATATATATATATATTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162710374	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	32	0.0313	25	c.7+1 others(40): Show c.7+17287_7+17288insGTGTGTGTGTGTGTGTGTGTGTGTG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11			chr6	TogoVar
PRKX_chrX_3599340_3718649	3613150	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0169 a0001c0002t0103g0169	1	227	0.0044	25	c.952 others(40): Show c.952-850_952-826dupTTTTTTTTTTTTTTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8			chrX	TogoVar
PRKX_chrX_3599340_3718649	3639454	T T	TGGGGTGG others(18): Show TGGGGTGGTAGATGGATGAAGGGGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp2 HG02258.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0085 a0001c0001t0002g0086	2	227	0.0088	25	c.719 others(42): Show c.719+2397_719+2398insCACCCCTTCATCCATCTACCACCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRLR_chr5_35050702_35235487	35235465	C C	CTTTTGAG others(18): Show CTTTTGAGATGCTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01993.hp1 others(10): Show HG01081.hp1 HG01192.hp1 HG01993.hp1 HG02056.hp1 HG02109.hp2 HG02818.hp2 HG03139.hp1 HG03139.hp2 HG03516.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0023 a0001c0001t0029 a0001c0001t0060 a0001c0001t0061 a0002c0002t0059	a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0002g0041 others(10): Show a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0002g0041 a0001c0001t0002g0061 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0023g0210 a0001c0001t0023g0213 a0001c0001t0029g0040 a0001c0001t0060g0209 a0001c0001t0061g0212 a0002c0002t0059g0211	13	214	0.0608	25	c.-53 others(36): Show c.-5304_-5303insAAAAAAAAAAAAAAGCATCTCAAAA	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding		4979		chr5	TogoVar
PRMT7_chr16_68306019_68363584	68357673	A A	AGGGTGGA others(18): Show AGGGTGGAGATTTCTGGCCCTCTAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00558.hp2 others(224): Show HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0017 a0001c0018 a0001c0020 a0002c0006 a0003c0011 a0006c0019 a0007c0012 a0008c0016	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012 a0001c0003t0019 a0001c0004t0002 a0001c0004t0011 a0001c0005t0007 a0001c0005t0018 a0001c0007t0004 a0001c0007t0013 a0001c0008t0001 a0001c0008t0016 a0001c0009t0002 a0001c0010t0002 a0001c0015t0001 a0001c0017t0002 a0001c0018t0002 a0001c0020t0002 a0002c0006t0004 a0003c0011t0002 a0006c0019t0004 a0007c0012t0001 a0008c0016t0012	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(214): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0151 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0258 a0001c0001t0005g0015 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0264 a0001c0001t0008g0239 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0242 a0001c0001t0014g0133 a0001c0001t0015g0182 a0001c0002t0001g0125 a0001c0002t0001g0166 a0001c0002t0001g0213 a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0002t0002g0029 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0002g0064 a0001c0002t0002g0089 a0001c0002t0002g0122 a0001c0002t0006g0044 a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0002t0006g0047 a0001c0003t0002g0004 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0011 a0001c0003t0002g0018 a0001c0003t0002g0030 a0001c0003t0002g0032 a0001c0003t0002g0037 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0094 a0001c0003t0002g0096 a0001c0003t0002g0097 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0104 a0001c0003t0002g0105 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0119 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0006g0010 a0001c0003t0006g0113 a0001c0003t0006g0114 a0001c0003t0012g0059 a0001c0003t0019g0039 a0001c0004t0002g0019 a0001c0004t0002g0020 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0024 a0001c0004t0011g0016 a0001c0004t0011g0017 a0001c0005t0007g0025 a0001c0005t0007g0026 a0001c0005t0007g0027 a0001c0005t0007g0028 a0001c0005t0007g0034 a0001c0005t0007g0035 a0001c0005t0018g0033 a0001c0007t0004g0260 a0001c0007t0013g0261 a0001c0008t0001g0142 a0001c0008t0016g0189 a0001c0009t0002g0006 a0001c0010t0002g0109 a0001c0015t0001g0143 a0001c0017t0002g0038 a0001c0018t0002g0095 a0001c0020t0002g0008 a0002c0006t0004g0178 a0002c0006t0004g0214 a0002c0006t0004g0230 a0003c0011t0002g0036 a0006c0019t0004g0253 a0007c0012t0001g0012 a0008c0016t0012g0099	227	284	0.7993	25	c.45 others(34): Show c.459_*460insTTCTGGCCCTCTAGTGGGTGGAGAT	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	19/19	460	INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0363 a0001c0001t0001g0363	1	364	0.0028	25	c.75+ others(40): Show c.75+4515_75+4516insATATATATATATATATATATTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02055.hp1 NA18970.hp2 HG01071.hp1 HG02055.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0241 a0001c0002t0002g0210 a0001c0001t0001g0021 a0001c0001t0001g0241 a0001c0002t0002g0210	3	364	0.0082	25	c.75+ others(40): Show c.75+4515_75+4516insATATATATATATATATATTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18984.hp2 NA18959.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0233 a0001c0001t0001g0135 a0001c0001t0001g0233	2	364	0.0055	25	c.75+ others(40): Show c.75+4515_75+4516insATATATATATATATATATATATATA	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9			chr12	TogoVar
PRMT9_chr4_147632785_147689163	147685238	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	222	0.0090	25	c.-12 others(36): Show c.-1252_-1251insAAAAAAAAAAAAAAAAAGAAAGAAA	PRMT9	ENSG00000164169.13	transcript	ENST00000322396.7	protein_coding		1076		chr4	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(18): Show TTCTTTCTTTTTTCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	374	0.0027	25	c.145 others(44): Show c.1454+1708_1454+1709insGGAAGGAAGGAAGAAAAAAGAAAGA	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27			chr4	TogoVar
PROSER2_chr10_11818356_11877277	11823401	C C	CGGCGGCG others(18): Show CGGCGGCGTGAGGGCTCCGGGTCGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0244 a0001c0001t0017g0244	1	348	0.0029	25	c.-14 others(34): Show c.-141_-117dupAGGGCTCCGGGTCGCTGGCGGCGTG	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/4	28642	INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA20905.hp1 HG01978.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0258 a0001c0001t0001g0111 a0001c0001t0001g0258	2	348	0.0058	25	c.-81 others(42): Show c.-81-9063_-81-9039dupTTTTTTTTTTTTTTTTTTTTTTTTT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCCACC others(18): Show TCTCCACCTCCCCTCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	227	0.0044	25	c.23 others(36): Show c.2346_*2347insCTCCACCTCCCCTCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133778	T T	TCTCTCCA others(18): Show TCTCTCCACCTCCCCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	227	0.0044	25	c.23 others(36): Show c.2346_*2347insCTCTCCACCTCCCCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2066		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133795	T T	TCTCTCCC others(18): Show TCTCTCCCTCCCTCTCTCCACCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	227	0.0044	25	c.23 others(36): Show c.2363_*2364insCTCTCCCTCCCTCTCTCCACCTCCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2083		chr19	TogoVar
PRPF4B_chr6_4016300_4069983	4035284	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	368	0.0027	25	c.123 others(44): Show c.1239-2104_1239-2080dupTTTTTTTTTTTTTTTTTTTTTTTTT	PRPF4B	ENSG00000112739.17	transcript	ENST00000337659.11	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRPF8_chr17_1645629_1689867	1687871	C C	CACATGCC others(18): Show CACATGCCTGTAATCCTAGTTACTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	291	0.0034	25	c.-31 others(36): Show c.-3104_-3103insCAAGTAACTAGGATTACAGGCATGT	PRPF8	ENSG00000174231.18	transcript	ENST00000304992.11	protein_coding		3005		chr17	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18995.hp2 NA18950.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0201 a0001c0002t0001g0314 a0001c0002t0001g0201 a0001c0002t0001g0314	2	392	0.0051	25	c.582 others(40): Show c.582-989_582-988insATATATATATATATATATATATTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0365 a0002c0003t0007g0365	1	392	0.0026	25	c.582 others(40): Show c.582-989_582-988insATATATATATATATATATATATATA	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPSAP1_chr17_76304478_76358916	76314228	G G	GTATGTAT others(18): Show GTATGTATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0235 a0001c0001t0012g0235	1	366	0.0027	25	c.782 others(40): Show c.782-338_782-337insACATACATACATACATACATACATA	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	7/9			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18884277	A A	AAGAAAAC others(18): Show AAGAAAACAAAAATACTCTAACAAAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0385 a0001c0001t0001g0385	1	392	0.0026	25	c.528 others(42): Show c.528+1595_528+1619dupAGAAAACAAAAATACTCTAACAAAT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR14L_chr22_31676347_31755132	31718803	G G	GTGGCTCA others(18): Show GTGGCTCATGCCTGTAATTCCAGCGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01070.hp2 HG01074.hp2 others(49): Show HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01167.hp2 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG06807.hp1 NA18962.hp2 NA19030.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(8): Show a0002 a0004 a0005 a0008 a0011 a0014 a0015 a0016 a0023 a0026 a0037	a0002c0002 a0002c0012 a0004c0004 others(10): Show a0002c0002 a0002c0012 a0004c0004 a0005c0009 a0005c0010 a0008c0007 a0011c0021 a0014c0019 a0015c0018 a0016c0016 a0023c0046 a0026c0044 a0037c0043	a0002c0002t0003 a0002c0012t0004 a0004c0004t0005 others(18): Show a0002c0002t0003 a0002c0012t0004 a0004c0004t0005 a0004c0004t0020 a0005c0009t0009 a0005c0009t0010 a0005c0009t0025 a0005c0010t0005 a0008c0007t0007 a0008c0007t0017 a0011c0021t0005 a0011c0021t0020 a0011c0021t0026 a0014c0019t0009 a0014c0019t0028 a0015c0018t0016 a0016c0016t0015 a0016c0016t0035 a0023c0046t0015 a0026c0044t0009 a0037c0043t0010	a0002c0002t0003g0041 a0002c0012t0004g0304 a0002c0012t0004g0305 others(49): Show a0002c0002t0003g0041 a0002c0012t0004g0304 a0002c0012t0004g0305 a0002c0012t0004g0306 a0002c0012t0004g0307 a0004c0004t0005g0024 a0004c0004t0005g0029 a0004c0004t0005g0030 a0004c0004t0005g0032 a0004c0004t0005g0034 a0004c0004t0005g0035 a0004c0004t0005g0043 a0004c0004t0005g0044 a0004c0004t0005g0196 a0004c0004t0005g0303 a0004c0004t0020g0031 a0005c0009t0009g0018 a0005c0009t0009g0019 a0005c0009t0010g0045 a0005c0009t0010g0046 a0005c0009t0010g0047 a0005c0009t0025g0026 a0005c0010t0005g0014 a0005c0010t0005g0015 a0005c0010t0005g0037 a0005c0010t0005g0241 a0005c0010t0005g0242 a0008c0007t0007g0025 a0008c0007t0007g0027 a0008c0007t0007g0038 a0008c0007t0007g0039 a0008c0007t0007g0040 a0008c0007t0007g0042 a0008c0007t0007g0301 a0008c0007t0017g0310 a0008c0007t0017g0311 a0008c0007t0017g0312 a0011c0021t0005g0028 a0011c0021t0020g0036 a0011c0021t0026g0033 a0014c0019t0009g0116 a0014c0019t0009g0118 a0014c0019t0028g0125 a0015c0018t0016g0011 a0015c0018t0016g0012 a0015c0018t0016g0013 a0016c0016t0015g0017 a0016c0016t0015g0020 a0016c0016t0035g0021 a0023c0046t0015g0119 a0026c0044t0009g0117 a0037c0043t0010g0048	52	316	0.1646	25	c.548 others(42): Show c.548-1513_548-1512insTCGCTGGAATTACAGGCATGAGCCA	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding	3/8			chr22	TogoVar
PRR20E_chr13_57162197_57175218	57166006	G G	GCCCCGCC others(18): Show GCCCCGCCCCCCCCCCCCCACCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	258	0.0039	25	c.-14 others(36): Show c.-1424_-1423insCCCCGCCCCCCCCCCCCCACCCCCC	PRR20E	ENSG00000234278.3	transcript	ENST00000434815.1	protein_coding		1190		chr13	TogoVar
PRRC1_chr5_127512640_127560085	127531617	C C	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0140 a0001c0001t0012g0140	1	340	0.0029	25	c.757 others(42): Show c.757+1223_757+1224insCTTTTTTTTTTTTTTTTTTTTTTTT	PRRC1	ENSG00000164244.21	transcript	ENST00000296666.13	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

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